Data Reports 2017

1 5 January 
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
2 26 January
Whole-exome sequencing analysis of supernumerary teeth occurrence in Japanese individuals
3 26 January
A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
4 9 February
A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
5 16 February
Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
6 16 February
A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
7 2 March
A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
8 16 March
A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
9 16 March
A novel C-terminal truncating NR5A1 mutation in dizygotic twins
10 13 April
Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
11 13 April
A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
12 13 April
Small copy-number variations involving genes of the FGF pathway in differences in sex development
13 20 April
Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension
14 11 May
Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
15 18 May
The first Japanese case of central precocious puberty with a novel MKRN3mutation
16 25 May
Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
17 1 June
A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection
18 1 June
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
19 8 June
PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene
20 8 June
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
 21 29 June 
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
22 6 July
A novel  three-based duplication, E243dup, of GEAP identified in a patient with Alesander disease
23  20 July
A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder
24 27 July
A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations
25 3 August
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyong adolescence 
26 3 August
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection

10 August
A novel BBS10 mutation identified in a patient with Barder-Biedl syndrome with a violent emotional outbreak